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    PDGFRL platelet derived growth factor receptor like [ Homo sapiens (human) ]

    Gene ID: 5157, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PDGFRLprovided by HGNC
    Official Full Name
    platelet derived growth factor receptor likeprovided by HGNC
    Primary source
    HGNC:HGNC:8805
    See related
    Ensembl:ENSG00000104213 MIM:604584; AllianceGenome:HGNC:8805
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDGRL; PRLTS
    Summary
    This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in fat (RPKM 15.7), ovary (RPKM 15.2) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8p22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17576433..17643144)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17843562..17910296)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17433942..17500653)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene solute carrier family 7 member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17394687-17395188 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17395189-17395688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18962 Neighboring gene Sharpr-MPRA regulatory region 10035 Neighboring gene uncharacterized LOC107986919 Neighboring gene uncharacterized LOC124901891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17516891-17517391 Neighboring gene Sharpr-MPRA regulatory region 10631 Neighboring gene Sharpr-MPRA regulatory region 14364 Neighboring gene microtubule associated scaffold protein 1 Neighboring gene microRNA 548v

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations. Hou S, et al. Hum Mutat, 2013 Jan. PMID 22926996
    2. Expression and functional characterization of platelet-derived growth factor receptor-like gene. Guo FJ, et al. World J Gastroenterol, 2010 Mar 28. PMID 20333786, Free PMC Article
    3. The gene expression profiles of primary and metastatic melanoma yields a transition point of tumor progression and metastasis. Riker AI, et al. BMC Med Genomics, 2008 Apr 28. PMID 18442402, Free PMC Article
    4. An integrative approach to characterize disease-specific pathways and their coordination: a case study in cancer. Xu M, et al. BMC Genomics, 2008. PMID 18366601, Free PMC Article
    5. Genetic background of different cancer cell lines influences the gene set involved in chromosome 8 mediated breast tumor suppression. Seitz S, et al. Genes Chromosomes Cancer, 2006 Jun. PMID 16552773

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. review elucidates the role of tumor stroma interactions, the roles of PDGF receptor signaling in cancer-associated fibroblasts via alteration of stromal matrix composition and the mitogenic effects of cancer-derived PDGFs.
      Title: PDGF/PDGFR signaling and targeting in cancer growth and progression: Focus on tumor microenvironment and cancer-associated fibroblasts.
    2. Data indicate the association between SNP rs17633132:C/T in PDGFRL with Behcet disease and suggest that the PDGFRL gene may be involved in Behcet disease by modulating its transcription.
      Title: Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations.
    3. Results indicate that PDGFRL functions as a tumor suppressor, inhibiting the growth of colorectal cancer cells.
      Title: Expression and functional characterization of platelet-derived growth factor receptor-like gene.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    		Compare labs
    Hepatocellular carcinoma
    MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables platelet activating factor receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables platelet-derived growth factor beta-receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in platelet-derived growth factor receptor-beta signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    platelet-derived growth factor receptor-like protein
    Names
    PDGF receptor beta-like tumor suppressor
    PDGFR-like protein
    platelet-derived growth factor-beta-like tumor suppressor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023332.2 RefSeqGene

      Range
      5785..71713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001372073.1 → NP_001359002.1  platelet-derived growth factor receptor-like protein precursor

      Status: REVIEWED

      Source sequence(s)
      AC124069, AP006248
      Consensus CDS
      CCDS6003.1
      UniProtKB/Swiss-Prot
      A8K085, Q15198, Q6FH04
      Related
      ENSP00000251630.4, ENST00000251630.11
      Conserved Domains (2) summary
      smart00410
      Location:83 → 145
      IG_like; Immunoglobulin like
      cl11960
      Location:293 → 372
      Ig; Immunoglobulin domain

    2. NM_006207.2 → NP_006198.1  platelet-derived growth factor receptor-like protein precursor

      See identical proteins and their annotated locations for NP_006198.1

      Status: REVIEWED

      Source sequence(s)
      AC124069, AK289450, BQ446405
      Consensus CDS
      CCDS6003.1
      UniProtKB/Swiss-Prot
      A8K085, Q15198, Q6FH04
      Related
      ENSP00000444211.1, ENST00000541323.1
      Conserved Domains (2) summary
      smart00410
      Location:83 → 145
      IG_like; Immunoglobulin like
      cl11960
      Location:293 → 372
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      17576433..17643144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      17843562..17910296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15198.1 GenPept UniProtKB/Swiss-Prot:Q15198

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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